Nezir Özgün1*, Çiğdem Seher Kasapkara2, Muhittin Celik1, Osman Akdeniz1 and Wim Wuyts3
1Department of Pediatrics, Diyarbakir Children’s Hospital, Turkey 2Department of Pediatrics, Dr Sami Ulus Children’s Hospital, Turkey 3Department of Medical Genetics, University Hospital of Antwerp, University of Antwerp, BelgiumFulltext PDF
Aim: Hereditary Multiple Exostoses has an autosomal dominance inheritance pattern and is classified as an O-xyloglucan glycosylation defect. Several Hereditary Multiple Exostoses patient series from Turkey have been published, but these did not include genetic analyses. This study is the largest genetic analysis of a Hereditary Multiple Exostoses patient series in Turkey reported to date and aims to determine the genotypic and phenotypic characteristics of Turkish Hereditary Multiple Exostoses family. Material and Methods: Based on an index patient with at least two osteochondromas in the long bones found clinically and with a positive family history, a father and his five children underwent genetic analysis. Polymerase chain reaction amplification and direct sequencing of all coding exons of the Exostosin glycosyltransferase gene. Results: Three of the children were male and two were female. Mutations were found in the father and four of the children, the exception being the third child (male). A heterozygotic c.1019G>A (p.Arg340His) mutation was found in the Exostosin glycosyltransferase 1 gene of all of the patients. However, disease symptoms started earlier and were more severe in males than in females. Cranial bone involvement was detected in three patients. Conclusion: Although the clinical findings of our patients were generally consistent with the literature, the frequency of cranial involvement was high in this series of Hereditary Multiple Exostoses patients, unlike those reported in previous studies and no Hereditary Multiple Exostoses patient with an Exostosin glycosyltransferase 2 gene mutations has been reported in Turkey to date. • What is Already Known?Several HME patient series from Turkey have been published, but these did not include genetic analyses. • Some reports state that cranial bones are not involved, while others state that they are rarely involved . What this Study Adds? • This study is the first and widest genetically studied patient series reported from Turkey. • Cranial involvement was high in this series of HME patients. • There has been no EXT2 gene mutation reported from Turkey so far.
Hereditary Multiple Exostoses; EXT1 gene; EXT2 gene; Cranial involvement
Özgün N, Kasapkara ÇS, Celik M, Akdeniz O, Wuyts W. Hereditary Multiple Exostoses: Genotypic and Phenotypic Characteristics of a Turkish Family. Ann Pediatr Res. 2020;4(2):1035..